Cysteine-rich hydrophobic domain-containing protein 2 (CHIC2)
The protein contains 165 amino acids for an estimated molecular weight of 19254 Da.
No function (updated: Sept. 12, 2018)
Protein identification was indicated in the following studies:
- Lange and co-workers. (2014) Annotating N termini for the human proteome project: N termini and Nα-acetylation status differentiate stable cleaved protein species from degradation remnants in the human erythrocyte proteome. J Proteome Res. 13(4), 2028-2044.
- Bryk and co-workers. (2017) Quantitative Analysis of Human Red Blood Cell Proteome. J Proteome Res. 16(8), 2752-2761.
- D'Alessandro and co-workers. (2017) Red blood cell proteomics update: is there more to discover? Blood Transfus. 15(2), 182-187.
Methods
The following articles were analysed to gather the proteome content of erythrocytes.
The gene or protein list provided in the studies were processed using the ID mapping API of Uniprot in September 2018. The number of proteins identified and mapped without ambiguity in these studies is indicated below.
Only Swiss-Prot entries (reviewed) were considered for protein evidence assignation.
| Publication | Identification 1 | Uniprot mapping 2 | Not mapped / Obsolete | TrEMBL | Swiss-Prot |
|---|---|---|---|---|---|
| Goodman (2013) | 2289 (gene list) | 2278 | 53 | 20599 | 2269 |
| Lange (2014) | 1234 | 1234 | 7 | 28 | 1224 |
| Hegedus (2015) | 2638 | 2622 | 0 | 235 | 2387 |
| Wilson (2016) | 1658 | 1528 | 170 | 291 | 1068 |
| d'Alessandro (2017) | 1826 | 1817 | 2 | 0 | 1815 |
| Bryk (2017) | 2090 | 2060 | 10 | 108 | 1942 |
| Chu (2018) | 1853 | 1804 | 55 | 362 | 1387 |
1 as available in the article and/or in supplementary material
2 uniprot mapping returns all protein isoforms as one entry
The compilation of older studies can be retrieved from the Red Blood Cell Collection database.
The data and differentiation stages presented below come from the proteomic study and analysis performed by our partners of the GReX consortium, more details are available in their published work.
This protein is annotated as membranous in Gene Ontology, is annotated as membranous in UniProt, is predicted to be membranous by TOPCONS.
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Cellular Component
Golgi apparatus
Golgi-associated vesicle
Intracellular membrane-bounded organelle
Plasma membrane
Molecular Function
The reference OMIM entry for this protein is 604332
Cysteine-rich hydrophobic domain protein 2; chic2
Brx-like gene translocated in leukemia; btl btl/etv6 fusion gene, included
CLONING
Cools et al. (1999) identified the BTL (BRX-like gene translocated in leukemia) gene as the fusion partner of the ETV6 gene (600618) in cases of acute myeloid leukemia. They cloned a BTL cDNA from a human fetal cDNA library. The deduced 165-amino acid protein shares 49% sequence similarity with the mouse Brx (CHIC1; 300922) protein.GENE FUNCTION
- BTL/ETV6 Fusion Gene Cools et al. (1999) reported 4 cases of acute myeloid leukemia (AML) with very immature myeloblasts and a t(4;12)(q11-q12;p13). In all cases, ETV6 was found to be recombined with the BTL gene. RT-PCR experiments indicated that expression of the BTL-ETV6 transcript but not of the reciprocal ETV6-BTL transcript is a common finding in these leukemias. In contrast to most of the other ETV6 fusions, both the complete helix-loop-helix and ETS DNA-binding domains of ETV6 are present in the predicted BTL-ETV6 fusion protein, and a chimeric gene is transcribed from the BTL promoter. In all 4 cases of AML, a transcript was present predicting a protein with the N-terminal 110 amino acids of BTL (exons 1-3) fused to the C-terminal 441 amino acids of ETV6 (exons 2-8).GENE STRUCTURE
Cools et al. (1999) determined that the BTL gene contains 6 exons.MAPPING
Cools et al. (1999) identified the BTL gene on chromosome 4q11-q12. ... More on the omim web site
Oct. 19, 2018: Protein entry updated
Automatic update: OMIM entry 604332 was added.
Oct. 19, 2018: Additional information
Initial protein addition to the database. This entry was referenced in Bryk and co-workers. (2017).